{ "uniprot_canonical_ac": "Q8NH18-1", "uniprot_ac": "Q8NH18", "uniprot_id": "OR5J2_HUMAN", "mass": { "chemical_mass": 34808.0, "monoisotopic_mass": 34808.0 }, "refseq": { "ac": "NP_001005492", "name": "olfactory receptor 5J2", "summary": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492" }, "gene_names": [ { "name": "OR5J2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8NH18", "id": "Q8NH18" }, { "name": "OR11-266", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492", "id": "NP_001005492" }, { "name": "OR5J2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492", "id": "NP_001005492" } ], "protein_names": [ { "name": "Olfactory receptor 5J2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8NH18" }, { "name": "Olfactory receptor OR11-266", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8NH18" }, { "name": "olfactory receptor 5J2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492", "id": "NP_001005492" }, { "name": "olfactory receptor OR11-266", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492", "id": "NP_001005492" } ], "function": [ { "annotation": "Odorant receptor.", "evidence": [ { "database": "UniProtKB", "id": "Q8NH18", "url": "https://www.uniprot.org/uniprot/Q8NH18#function" } ] }, { "annotation": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001005492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs754686350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754686350" }, { "id": "rs754686350", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754686350" }, { "id": "rs754686350", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754686350#frequency_tab" }, { "id": "rs754686350", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754686350" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 186, "end_pos": 186, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KLS->NLS).", "chr_id": "11", "chr_pos": "56177175", "ref_nt": "T", "alt_nt": "null", 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"rs139886298", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139886298#frequency_tab" }, { "id": "rs139886298", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139886298" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 256, "end_pos": 256, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFS->NFS).", "chr_id": "11", "chr_pos": "56177384", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1291462308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291462308" }, { "id": "rs1291462308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291462308#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 5, "end_pos": 5, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->KFT).", "chr_id": "11", "chr_pos": "56176632", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N5", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1360596437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360596437" }, { "id": "rs1360596437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360596437" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 7, "end_pos": 7, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->NFK).", "chr_id": "11", "chr_pos": "56176637", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T7", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NH18", "url": "https://www.uniprot.org/uniprot/Q8NH18" } ], "common_name": "Human" } ], "gene": [ { "name": "OR5J2", "url": "https://www.uniprot.org/uniprot/Q8NH18", "locus": { "chromosome": "11", "start_pos": 56177556, "end_pos": 56176618, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000174957", "url": "https://www.ensembl.org/id/ENSG00000174957" } ] } } ], "crossref": [ { "id": "ENSG00000174957", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174957", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd15415", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd15415", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "OR5J2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OR5J2", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "282775", "url": "https://www.ncbi.nlm.nih.gov/gene/282775", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "19612", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=19612", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000276", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000276", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000725", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000725", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017452", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017452", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:282775", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:282775", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NX_Q8NH18", "url": "https://www.nextprot.org/entry/NX_Q8NH18", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "WIGGIVN", "url": "https://omabrowser.org/oma/group/WIGGIVN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5316363at2759", "url": "http://www.orthodb.org/?query=5316363at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48018", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48018", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48018:SF105", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48018:SF105", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13853", "url": "http://pfam.xfam.org/family/PF13853", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q8NH18", "url": "https://pharos.nih.gov/targets/Q8NH18", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q8NH18", "url": "http://purl.obolibrary.org/obo/PR_Q8NH18", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9752946", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001005492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005492", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8NH18", "url": "https://www.uniprot.org/uniprot/Q8NH18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8NH18-1", "url": "https://www.uniprot.org/uniprot/Q8NH18-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADDNFTVVTEFILLGLTDHAELKAVLFVVFLVIYAITLLRNLGMILLIQITSKLHTPMYFLLSCLSFVDACYSSAIAPKMLVNLLVVKATISFSACMVQHLCFGVFITTEGFLLSVMAYDRYVAIVSPLLYTVAMSDRKCVELVTGSWIGGIVNTLIHTISLRRLSFCRLNAVSHFFCDIPSLLKLSCSDTSMNELLLLTFSGVIAMATFLTVIISYIFIAFASLRIHSASGRQQAFSTCASHLTAVTIFYGTLIFSYIQPSSQYFVEQEKVVSMFYTLGIPMLNLLIHSLRNKDVKEAVKRAIEMKHFLC", "length": 312, "header": "sp|Q8NH18-1|OR5J2_HUMAN Isoform 1 of Olfactory receptor 5J2 OS=Homo sapiens OX=9606 GN=OR5J2 PE=3 SV=1 CANONICAL=Q8NH18-1" }, "isoforms": [ { "isoform_ac": "Q8NH18-1", "url": "", "sequence": { "sequence": "MADDNFTVVTEFILLGLTDHAELKAVLFVVFLVIYAITLLRNLGMILLIQITSKLHTPMYFLLSCLSFVDACYSSAIAPKMLVNLLVVKATISFSACMVQHLCFGVFITTEGFLLSVMAYDRYVAIVSPLLYTVAMSDRKCVELVTGSWIGGIVNTLIHTISLRRLSFCRLNAVSHFFCDIPSLLKLSCSDTSMNELLLLTFSGVIAMATFLTVIISYIFIAFASLRIHSASGRQQAFSTCASHLTAVTIFYGTLIFSYIQPSSQYFVEQEKVVSMFYTLGIPMLNLLIHSLRNKDVKEAVKRAIEMKHFLC", "length": 312, "header": "sp|Q8NH18-1|OR5J2_HUMAN Isoform 1 of Olfactory receptor 5J2 OS=Homo sapiens OX=9606 GN=OR5J2 PE=3 SV=1 CANONICAL=Q8NH18-1" }, "locus": { "chromosome": "11", "start_pos": 56177553, "end_pos": 56176618, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000312298.1", "url": "https://www.ensembl.org/id/ENST00000312298.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000310788.1", "url": "https://www.ensembl.org/id/ENSP00000310788.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) 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